DE BERARDINIS, TERESA
DE BERARDINIS, TERESA
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
2010 Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C.
Oftalmoplegie familiari ad insorgenza precoce e tardiva.
1999 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.
Studio del metabolismo mitocondriale (curva lattato ed enzimi mitocondriali su piastrine ) in 4 pazienti affetti da oftalmoplegia congenita esterna cronica progressiva ad esordio infantile
1992 Vastarella, P.; Santorelli, F.; DE BERARDINIS, Teresa; Banfi, S.; Gasparro Rippa, P.; A., Magli
(1998). Classificazione, valutazione e trattamento delle blefaroptosi in età pediatrica.
1998 Magli, A.; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G.
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
2011 Gargiulo, A; Testa, F; Rossi, S; Di Iorio, V; Fecarotta, S; DE BERARDINIS, Teresa; Iovine, A; Magli, A; Signorini, S; Fazzi, E; Galantuomo, Ms; Fossarello, M; Montefusco, S; Ciccodicola, A; Neri, A; Macaluso, C; Simonelli, F; Surace, Enrico Maria
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance.
2010 Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C.
Analysis of foveation duration and repeatability at different gaze positions in patients affected by congenital nystagmus.
2007 Cesarelli, M.; Bifulco, P.; Romano, M.; Pasquariello, G.; Fratini, A.; Loffredo, L.; Magli, A.; DE BERARDINIS, Teresa
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group
1999 G., Defazio; A., Berardelli; G., Abbruzzese; V., Coviello; F., Carella; DE BERARDINIS, Teresa; G., Galardi; P., Girlanda; S., Maurri; M., Mucchiut; A., Albanese; M., Basciani; L., Bertolasi; R., Liguori; N., Tambasco; L., Santoro; G., Assennato; P., Livrea
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
2003 Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, A; DE BERARDINIS, Teresa; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; DEL MONTE, M; Johnson, Rh; Uyama, E; Houtman, Wa; DE VRIES, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkaemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C.
Clinical and surgical data of affected members of a classic CFEOM 1 family.
2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
2002 ENGLE EC MCINTOSH N. YAMADA K. LEE BA JOHNSON R. O'KEEFE M. LETSON R., LONDON A; Magli, Adriano; DE BERARDINIS, Teresa
Clinical and surgical data of affected members of a classic CFEOM 1 family.
2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family.
2003 DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; A., Magli
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family
2001 A., Magli; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family
2001 Magli, Adriano; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco
Pharmacological denervation in the treatment of sixth cranial nerve palsy.
2001 Calace, P; Cortese, G; Gagliardi, V; Magli, Adriano; DE BERARDINIS, Teresa
Le Varietà di strabismo sensibili al trattamento con tossina botulinica
1998 Calace, P.; Magli, Adriano; DE BERARDINIS, Teresa
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1), additional CFEOM1 families, and a reduction of the critical region on chromosome 12.
2000 Engle, E. C.; Mcintosh, N.; Lee, B. A.; Jhonson, R; O'Keefe, M.; Letson, R.; Krawiecki, N.; Shoffner, J; Ruttum, M; Sabol, Lj; Magli, Adriano; DE BERARDINIS, Teresa
Oftalmoplegie familiari ad insorgenza precoce e tardiva. BOLLETTINO DI OCULISTICA, vol. 78 suppl. 3, p. 21-28, ISSN: 0006-67
1999 Magli, A; DE BERARDINIS, Teresa; Gagliardi, V.
Classificazione,valutazione e trattamento delle blefaroptosi in età pediatrica
1998 Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G.
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
---|---|---|---|---|
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. | 1.1 Articolo in rivista | 2010 | Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C. | |
Oftalmoplegie familiari ad insorgenza precoce e tardiva. | 1.1 Articolo in rivista | 1999 | Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V. | |
Studio del metabolismo mitocondriale (curva lattato ed enzimi mitocondriali su piastrine ) in 4 pazienti affetti da oftalmoplegia congenita esterna cronica progressiva ad esordio infantile | 1.1 Articolo in rivista | 1992 | Vastarella, P.; Santorelli, F.; DE BERARDINIS, Teresa; Banfi, S.; Gasparro Rippa, P.; A., Magli | |
(1998). Classificazione, valutazione e trattamento delle blefaroptosi in età pediatrica. | 1.1 Articolo in rivista | 1998 | Magli, A.; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G. | |
Molecular and clinical characterization of albinism in a large cohort of Italian patients. | 1.1 Articolo in rivista | 2011 | Gargiulo, A; Testa, F; Rossi, S; Di Iorio, V; Fecarotta, S; DE BERARDINIS, Teresa; Iovine, A; Magli, A; Signorini, S; Fazzi, E; Galantuomo, Ms; Fossarello, M; Montefusco, S; Ciccodicola, A; Neri, A; Macaluso, C; Simonelli, F; Surace, Enrico Maria | |
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance. | 1.1 Articolo in rivista | 2010 | Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C. | |
Analysis of foveation duration and repeatability at different gaze positions in patients affected by congenital nystagmus. | 4.1 Articoli in Atti di convegno | 2007 | Cesarelli, M.; Bifulco, P.; Romano, M.; Pasquariello, G.; Fratini, A.; Loffredo, L.; Magli, A.; DE BERARDINIS, Teresa | |
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group | 1.1 Articolo in rivista | 1999 | G., Defazio; A., Berardelli; G., Abbruzzese; V., Coviello; F., Carella; DE BERARDINIS, Teresa; G., Galardi; P., Girlanda; S., Maurri; M., Mucchiut; A., Albanese; M., Basciani; L., Bertolasi; R., Liguori; N., Tambasco; L., Santoro; G., Assennato; P., Livrea | |
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). | 1.1 Articolo in rivista | 2003 | Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, A; DE BERARDINIS, Teresa; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; DEL MONTE, M; Johnson, Rh; Uyama, E; Houtman, Wa; DE VRIES, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkaemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C. | |
Clinical and surgical data of affected members of a classic CFEOM 1 family. | 1.1 Articolo in rivista | 2003 | Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V. | |
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. | 1.1 Articolo in rivista | 2002 | ENGLE EC MCINTOSH N. YAMADA K. LEE BA JOHNSON R. O'KEEFE M. LETSON R., LONDON A; Magli, Adriano; DE BERARDINIS, Teresa | |
Clinical and surgical data of affected members of a classic CFEOM 1 family. | 1.1 Articolo in rivista | 2003 | Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V. | |
Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family. | 4.1 Articoli in Atti di convegno | 2003 | DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; A., Magli | |
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family | 4.1 Articoli in Atti di convegno | 2001 | A., Magli; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco | |
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family | 4.1 Articoli in Atti di convegno | 2001 | Magli, Adriano; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco | |
Pharmacological denervation in the treatment of sixth cranial nerve palsy. | 4.1 Articoli in Atti di convegno | 2001 | Calace, P; Cortese, G; Gagliardi, V; Magli, Adriano; DE BERARDINIS, Teresa | |
Le Varietà di strabismo sensibili al trattamento con tossina botulinica | 1.1 Articolo in rivista | 1998 | Calace, P.; Magli, Adriano; DE BERARDINIS, Teresa | |
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1), additional CFEOM1 families, and a reduction of the critical region on chromosome 12. | 5.14 Altro ministeriale | 2000 | Engle, E. C.; Mcintosh, N.; Lee, B. A.; Jhonson, R; O'Keefe, M.; Letson, R.; Krawiecki, N.; Shoffner, J; Ruttum, M; Sabol, Lj; Magli, Adriano; DE BERARDINIS, Teresa | |
Oftalmoplegie familiari ad insorgenza precoce e tardiva. BOLLETTINO DI OCULISTICA, vol. 78 suppl. 3, p. 21-28, ISSN: 0006-67 | 1.1 Articolo in rivista | 1999 | Magli, A; DE BERARDINIS, Teresa; Gagliardi, V. | |
Classificazione,valutazione e trattamento delle blefaroptosi in età pediatrica | 4.1 Articoli in Atti di convegno | 1998 | Magli, Adriano; DE BERARDINIS, Teresa; Gagliardi, V.; Pignalosa, G. |